ArticleJournal of clinical hypertension (Greenwich, Conn.)2015
Prevalence of Liddle Syndrome Among Young Hypertension Patients of Undetermined Cause in a Chinese Population.
Article in Journal of clinical hypertension (Greenwich, Conn.), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.
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Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 52 citations in OpenAlex.
- A frameshift mutation in theMolecular medicine reports · 2024Pooled it
- Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension.American journal of hypertension · 2020Pooled it
- Liddle syndrome caused by SCNN1B mutation presenting with severe early-onset hypertension and hypokalemia in an adolescent: a case report.BMC endocrine disorders · 2026Article
- Novel frameshift variant in the β subunit of epithelial sodium channels uncovers Liddle syndrome in a young patient with metabolic syndrome: a case report with review of literature.Endocrine journal · 2026Review
- Liddle Syndrome Presenting as Hypertensive Crisis and Myocardial Injury in a Young Male: A Case Report.Case reports in nephrology · 2026Article
- Adrenal causes of endocrine hypertension in childhood or adolescence.Journal of endocrinological investigation · 2025Review
- A parent and child with Liddle syndrome diagnosed correctly with the child as the proband: a case report with review of literature.Endocrine journal · 2025Review
- Renal Hypokalemia: An Endocrine Perspective.The Journal of clinical endocrinology and metabolism · 2024Review
- Monogenic and polygenic concepts in chronic kidney disease (CKD).Journal of nephrology · 2024Review
- A Novel Frame-Shift Mutation inFrontiers in cardiovascular medicine · 2022Article
- Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation ofFrontiers in pediatrics · 2022Article
- Recent insights into sodium and potassium handling by the aldosterone-sensitive distal nephron: implications on pathophysiology and drug discovery.Journal of nephrology · 2020Review
- Overview of Monogenic Forms of Hypertension Combined With Hypokalemia.Frontiers in pediatrics · 2020Review
- Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report.BMC nephrology · 2019Article
- A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia.American journal of hypertension · 2019Article
- Overview of Monogenic or Mendelian Forms of Hypertension.Frontiers in pediatrics · 2019Review
- Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B.Endocrine connections · 2018Article
- Hypokalemia: a clinical update.Endocrine connections · 2018Review
- Liddle Syndrome: Review of the Literature and Description of a New Case.International journal of molecular sciences · 2018Review
- Three Reportedly Unrelated Families With Liddle Syndrome Inherited From a Common Ancestor.Hypertension (Dallas, Tex. : 1979) · 2018Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Liddle syndrome, an autosomal dominant form of monogenic hypertension, has been regarded as a rare disorder, which leads to many Liddle syndrome patients being misdiagnosed and experiencing severe complications at an early age. Little is known about the prevalence of Liddle syndrome. In this study, the authors investigated the prevalence of Liddle syndrome confirmed by genetic testing among young hypertension patients of undetermined causes in China. A total of 330 hypertensive patients aged 14 to 40 years after exclusion of common secondary causes of hypertension were enrolled and serum potassium concentrations were measured. Patients with hypokalemia underwent genetic testing of the 13th exon of genes encoding β and γ subunits of the epithelial sodium channel (ENaC). Diagnosis was established by identification of mutations that destroy the PY motif of ENaC. Five patients were diagnosed with Liddle syndrome (prevalence, 1.52%), as well as 12 of their relatives. These patients with Liddle syndrome presented with an earlier onset of hypertension, a stronger family history of hypertension, and higher blood pressure than those with essential hypertension. All patients had hypokalemia and suppressed plasma renin activity. The results demonstrated that Liddle syndrome is an important etiology of hypertension in this young population. Screening of Liddle syndrome should focus on young hypertension patients, particularly those with early penetrance, hypokalemia, and low renin levels after exclusion of common secondary causes.
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